Canonical Allele Identifier: CA2392512809
Community Standard Title: NM_001849.4(COL6A2):c.2894G= (p.Arg965=)
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132386G= , CM000683.2:g.46132386G= GRCh38
NC_000021.8:g.47552300G= , CM000683.1:g.47552300G= GRCh37
NC_000021.7:g.46376728G= NCBI36
NG_008675.1:g.39268G= , LRG_476:g.39268G=

Transcript Alleles

HGVS Amino-acid Change
NM_001849.4:c.2894G= MANE Select NP_001840.3:p.Arg965=
ENST00000300527.9:c.2894G= MANE Select ENSP00000300527.4:p.Arg965=
NM_001849.3:c.2894G= , LRG_476t1:c.2894G= NP_001840.3:p.Arg965=
ENST00000300527.8:c.2894G= ENSP00000300527.4:p.Arg965=
XM_011529451.1:c.2894G= XP_011527753.1:p.Arg965=
XM_011529452.1:c.2894G= XP_011527754.1:p.Arg965=
XR_937438.1:n.2971G=
XR_937438.2:n.2978G=